Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-04-17

AUTHORS

Renata Nacinovich, Nicoletta Villa, Serena Redaelli, Fiorenza Broggi, Monica Bomba, Patrizia Stoppa, Agnese Scatigno, Angelo Selicorni, Leda Dalprà, Francesca Neri

ABSTRACT

BACKGROUND: Interstitial deletions of chromosome 11 long arm are rarely observed and the associated phenotype ranges from normal to severe, depending on the position and size of the deletion and on the presence of unmasked recessive genes on the normal homologous. To our knowledge 32 cases are reported in literature with three family cases. Phenotype-genotype correlation is not very clear and the most common features are characteristic facial dysmorphisms, palate anomalies and developmental delay. Growth retardation is not typical and other major malformations are reported in some cases. CASE PRESENTATION: We described a child with 11q interstitial deletion diagnosed at birth with hypotonia and minor dysmorphisms using standard cytogenetic techniques; array CGH was subsequently performed to define the deletion at a molecular level. CONCLUSIONS: This case gave us the opportunity to attempt a genotype-phenotype correlation reviewing the literature and to describe a rehabilitative program that improved the development perspectives of this child. More... »

PAGES

248-248

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1756-0500-7-248

DOI

http://dx.doi.org/10.1186/1756-0500-7-248

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1042592632

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24742288


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